R43L (p.Arg43Leu) variant of GRIN1 (Q05586)
R43L (p.Arg43Leu) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- gnomAD 9-137139614-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.47
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available